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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KLHL40 Gene

protein-coding   GIFtS: 41
GCID: GC03P042727

Kelch-Like Family Member 40

(Previous names: kelch repeat and BTB (POZ) domain containing 5, kelch-like...)
(Previous symbol: KBTBD5)
  Search for KLHL40
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Kelch-Like Family Member 401 2     Kelch-Like 40 (Drosophila)1
KBTBD51 2 3     NEM82
Kelch Repeat And BTB (POZ) Domain Containing 51 2     SYRP2
Nemaline Myopathy Type 81 2     Kelch-Like 402
sarcosynapsin1 2     Kelch-Like Protein 402
Kelch Repeat And BTB Domain-Containing Protein 52 3     Sarcosynapsin3
SRYP2 3     

External Ids:    HGNC: 303721   Entrez Gene: 1313772   Ensembl: ENSG000001571197   OMIM: 6153405   UniProtKB: Q2TBA03   

Export aliases for KLHL40 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KLHL40 Gene:
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact
function is not known. The gene and the multi-domain protein structure are conserved across different taxa,
including primates, rodents, chicken and zebrafish. (provided by RefSeq, Dec 2012)

GeneCards Summary for KLHL40 Gene: 
KLHL40 (kelch-like family member 40) is a protein-coding gene. An important paralog of this gene is KLHL21.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KLHL40
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL40 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL40

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL40


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p22.1   Ensembl cytogenetic band:  3p22.1   HGNC cytogenetic band: 3p21.33

KLHL40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL40 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P042727:  view genomic region     (about GC identifiers)

Start:
42,727,011 bp from pter      End:
42,734,036 bp from pter
Size:
7,026 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KLH40_HUMAN, Q2TBA0 (See protein sequence)
Recommended Name: Kelch-like protein 40  
Size: 621 amino acids; 69257 Da
1 PDB 3D structure from and Proteopedia for KLHL40:
4ASC (3D)    
Secondary accessions: Q86SI1 Q96MR2
Alternative splicing: 2 isoforms:  Q2TBA0-1   Q2TBA0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KLHL40: NX_Q2TBA0

Explore proteomics data for KLHL40 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q2TBA0

  • KLHL40 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KLHL40 Protein Expression
    REFSEQ proteins: NP_689606.2  
    ENSEMBL proteins: 
     ENSP00000287777  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030017sarcomere IEA--

    KLHL40 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    5/7 InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin
     IPR013069 BTB_POZ
     IPR011705 BACK

    Graphical View of Domain Structure for InterPro Entry Q2TBA0

    ProtoNet protein and cluster: Q2TBA0

    3 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB001497 Methylated-DNA-[protein]-cysteine S-methyltransferase
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLH40_HUMAN, Q2TBA0
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 5 Kelch repeats


    KLHL40 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KLHL40 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KLHL40:
     Increased cell death HMECs cel 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL40

    4 Interacting proteins for KLHL40 (Q2TBA03) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AXIN1O151693I2D: score=1 
    AXIN2Q9Y2T13I2D: score=1 
    CSNK1A1P487293I2D: score=1 
    CSNK1EP496743I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--

    KLHL40 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KLHL40 (KLH40)

    Search CenterWatch for drugs/clinical trials and news about KLHL40 / KLH40

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KLHL40 gene: 
    NM_152393.3  

    Unigene Cluster for KLHL40:

    Kelch-like family member 40
    Hs.350288  [show with all ESTs]
    Unigene Representative Sequence: NM_152393
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000287777(uc003clv.1)
    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KLHL40
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    Additional mRNA sequence: 

    AK056577.1 AK291294.1 AK300682.1 AY176040.1 AY177390.1 BC110491.2 

    2 DOTS entries:

    DT.40285996  DT.431001 

    14 AceView cDNA sequences:

    F00401 BU101535 AY176040 AY177390 AK056577 NM_152393 AI274020 AI097070 
    F27785 F37359 AI037905 AI659482 AA340789 AW445105 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KLHL40 expression in normal human tissues (normalized intensities)      KLHL40 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KLHL40 Expression
    About this image


    KLHL40 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             vastus lateralis   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Oral Cavity (Gastrointestinal Tract)
             mouth   

    See KLHL40 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL40

    SOURCE GeneReport for Unigene cluster: Hs.350288
        SABiosciences Custom PCR Arrays for KLHL40
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL40

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KLHL40 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl405
    Kbtbd51
    kelch repeat and BTB (POZ) domain containing 51, 5 86.75(n)1
    92.73(a)1
      9 (72.61 cM)5
    723301  NM_028202.31  NP_082478.11 
     1217776075 
    chicken
    (Gallus gallus)
    Aves KBTBD51 kelch repeat and BTB (POZ) domain containing 5 71.1(n)
    72.08(a)
      420389  XM_418495.2  XP_418495.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    67(a)
    64(a)
    1 ↔ many
    1 ↔ many
    AAWZ02040060(1652-6291)
    6(2721074-2733208)
    zebrafish
    (Danio rerio)
    Actinopterygii kbtbd5a1 kelch repeat and BTB (POZ) domain containing 5a 62.6(n)
    59.9(a)
      553257  NM_001128682.1  NP_001122154.1 


    ENSEMBL Gene Tree for KLHL40 (if available)
    TreeFam Gene Tree for KLHL40 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL40 gene
    KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD122  KLHL242  KBTBD22  ENC12  
    KLHL382  KLHL292  KBTBD32  KLHL232  KLHL72  KBTBD72  KLHL252  KLHL302  
    KBTBD62  KLHL352  
    3 SIMAP similar genes for KLHL40 using alignment to 1 protein entry:     KLH40_HUMAN:
    BBS5    KLHL41    SARCOSIN

    KLHL40 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/314 SNPs in KLHL40 are shown (see all 314)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1157675911,2
    C,F--42658501(+) TGCCCT/GCCCTG 1 -- us2k11Minor allele frequency- G:0.02WA 118
    rs1836056861,2
    --42658645(+) AGGCGC/TGGTGG 1 -- us2k10--------
    rs1873879771,2
    --42658694(+) GGGCGA/GATCAC 1 -- us2k10--------
    rs1142827491,2
    F--42658827(+) AGCTAC/GTAGGA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1411648621,2
    C--42659388(+) TATGC-/ACCAAG 1 -- us2k10--------
    rs1910492531,2
    --42659402(+) AGTGAA/GTATAG 1 -- us2k10--------
    rs1832843061,2
    C--42659414(+) TAGCTA/GAAGTC 1 -- us2k10--------
    rs3397031,2
    C,F,A,H--42659477(-) TCTAGG/AGAGTG 1 -- us2k128Minor allele frequency- A:0.15NA NS EA WA CSA 2865
    rs1147238521,2
    C,F--42659496(+) ACCCCG/AGGGGT 1 -- us2k11Minor allele frequency- A:0.06NA 120
    rs1396855401,2
    --42659601(+) CAGTAC/GCTTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KLHL40 (42727011 - 42734036 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KLHL40: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KLHL40
    DNA2.0 Custom Variant and Variant Library Synthesis for KLHL40

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KLHL40 for disorders           About MalaCards
    OMIM gene information: 615340    OMIM disorders: --


    KLHL40 for disorders           About GeneDecksing


    Export disorders for KLHL40 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KLHL40 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with KLHL40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in KLHL40 are a frequent cause of severe aut osomal-recessive nemaline myopathy. (PubMed id 23746549)1, 3 Ravenscroft G....Laing N.G. (2013)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Structural basis for Cul3 assembly with the BTB-Kelch family of E3 ubiquitin ligases. (PubMed id 23349464)2 Canning P.... Bullock A.N. (2013)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    6. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 131377 HGNC: 30372 AceView: KBTBD5 Ensembl:ENSG00000157119 euGenes: HUgn131377
    ECgene: KLHL40 H-InvDB: KLHL40

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KLHL40 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KLHL40 gene:
    Search GeneIP for patents involving KLHL40

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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